Brackley K J, Kilby M D, Wright J G, Brawn W J, Sethia B, Stumper O, Holder R, Wyldes M P, Whittle M J
Division of Reproductive and Child Health, Birmingham Women's and Children's Hospitals, University of Birmingham.
Lancet. 2000 Sep 30;356(9236):1143-7. doi: 10.1016/s0140-6736(00)02756-2.
Traditionally, after prenatal diagnosis of hypoplastic left-heart syndrome (HLHS) couples have been offered termination of pregnancy or comfort care. Success of postnatal surgical options such as the Norwood procedure have been associated with survival of up to 60%. Whether survival is affected by the congenital anomaly being identified prenatally or postnatally remains uncertain.
We reviewed all cases of prenatally diagnosed HLHS referred to the Fetal Medicine Unit at Birmingham Women's Hospital over 6 years between 1994 and 1999.
87 cases of HLHS were referred at a median gestational age (95% CI) of 23 (19-37) weeks. Of these, 53 (61%) chose prenatal karyotyping. The overall frequency of abnormal karyotype was found in seven of 59 cases (12%) and associated structural anomalies in 18 of 87 (21%). After counselling, 38 of 87 couples (44%) chose termination of pregnancy. Of the remaining 49 fetuses, 11 (23%) were not considered for postnatal surgery because of parental choice and they died after compassionate care. Of the 36 babies who had surgery postnatally, 12 survived (33%). We recorded a survival rate of 38% for the stage-1 Norwood procedure in the prenatally diagnosed HLHS in our centre. These data suggest that at the point of prenatal detection, the overall survival rate for fetuses with HLHS is 25% (if terminated pregnancies are excluded).
Fetal echocardiography allows early diagnosis of HLHS and gives clinicians the opportunity to triage this group dependent on prenatal findings, including karyotyping and the exclusion of other structural anomalies. These prospective data provide up-to-date information on the basis of which parents can make decisions.
传统上，在产前诊断出左心发育不全综合征（HLHS）后，会建议夫妇终止妊娠或采取姑息治疗。诸如诺伍德手术等产后手术方案的成功率与高达60%的存活率相关。存活是否受先天性异常在产前或产后被识别的影响仍不确定。
我们回顾了1994年至1999年这6年间转诊至伯明翰妇女医院胎儿医学科的所有产前诊断为HLHS的病例。
87例HLHS病例在孕龄中位数（95%置信区间）为23（19 - 37）周时被转诊。其中，53例（61%）选择了产前染色体核型分析。在59例中有7例（12%）发现染色体核型异常，87例中有18例（21%）伴有结构异常。咨询后，87对夫妇中有38对（44%）选择终止妊娠。在其余49例胎儿中，11例（23%）因父母的选择未被考虑进行产后手术，他们在接受姑息治疗后死亡。在36例产后接受手术的婴儿中，12例存活（33%）。我们中心产前诊断为HLHS的患儿进行一期诺伍德手术的存活率为38%。这些数据表明，在产前检测时，排除终止妊娠的胎儿后，HLHS胎儿的总体存活率为25%。
胎儿超声心动图可早期诊断HLHS，并使临床医生有机会根据产前检查结果，包括染色体核型分析和排除其他结构异常，对这组病例进行分类。这些前瞻性数据提供了最新信息，父母可据此做出决策。
